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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-155610249-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155610249&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2"
],
"effects": [
"start_lost"
],
"gene_symbol": "MSTO1",
"hgnc_id": 29678,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_018116.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105371452",
"hgnc_id": null,
"hgvs_c": "n.77-357T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "XR_922171.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000232519",
"hgnc_id": null,
"hgvs_c": "n.103+29T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000456382.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6105374097824097,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 570,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 32,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_018116.4",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245564.8",
"protein_coding": true,
"protein_id": "NP_060586.2",
"strand": true,
"transcript": "NM_018116.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 570,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 32,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000245564.8",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018116.4",
"protein_coding": true,
"protein_id": "ENSP00000245564.3",
"strand": true,
"transcript": "ENST00000245564.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 524,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 9,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368341.8",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357325.4",
"strand": true,
"transcript": "ENST00000368341.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000490743.5",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "n.1A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476353.1",
"strand": true,
"transcript": "ENST00000490743.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 604,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 54,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000863884.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533943.1",
"strand": true,
"transcript": "ENST00000863884.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 569,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 80,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001256532.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243461.1",
"strand": true,
"transcript": "NM_001256532.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 569,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4009,
"cdna_start": 62,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000863883.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533942.1",
"strand": true,
"transcript": "ENST00000863883.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 569,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 24,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933227.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603286.1",
"strand": true,
"transcript": "ENST00000933227.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 559,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 80,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350772.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337701.1",
"strand": true,
"transcript": "NM_001350772.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 558,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 80,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001256533.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243462.1",
"strand": true,
"transcript": "NM_001256533.1",
"transcript_support_level": null
},
{
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"aa_length": 558,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 80,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 1,
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"feature": "NM_001350773.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337702.1",
"strand": true,
"transcript": "NM_001350773.1",
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},
{
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"cdna_length": 2386,
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"cds_end": null,
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"cds_start": 1,
"consequences": [
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],
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"feature": "ENST00000863886.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533945.1",
"strand": true,
"transcript": "ENST00000863886.1",
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},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 80,
"cds_end": null,
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"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
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"feature": "NM_001350774.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001337703.1",
"strand": true,
"transcript": "NM_001350774.1",
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},
{
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],
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"feature": "ENST00000649846.1",
"gene_hgnc_id": 29678,
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"hgvs_c": "c.1A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000498188.1",
"strand": true,
"transcript": "ENST00000649846.1",
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},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 25,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000941778.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611837.1",
"strand": true,
"transcript": "ENST00000941778.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 80,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350775.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
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"protein_id": "NP_001337704.1",
"strand": true,
"transcript": "NM_001350775.1",
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},
{
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"cdna_start": 9,
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"cds_start": 1,
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],
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"feature": "ENST00000863888.1",
"gene_hgnc_id": 29678,
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"strand": true,
"transcript": "ENST00000863888.1",
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},
{
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"aa_ref": "M",
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"cds_end": null,
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"cds_start": 1,
"consequences": [
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],
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"feature": "ENST00000933229.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
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"hgvs_p": "p.Met1?",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000933229.1",
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},
{
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"cds_end": null,
"cds_length": 1626,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000941779.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611838.1",
"strand": true,
"transcript": "ENST00000941779.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 539,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 35,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1,
"consequences": [
"start_lost"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000863889.1",
"gene_hgnc_id": 29678,
"gene_symbol": "MSTO1",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533948.1",
"strand": true,
"transcript": "ENST00000863889.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 519,
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